WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient Marie des Georges, Caroline.

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WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient Marie des Georges, Caroline Guittard, Carine Templin, Jean-Pierre Altiéri, Candice de Carvalho, Michele Ramsay, Mireille Claustres The Journal of Molecular Diagnostics Volume 10, Issue 6, Pages 544-548 (November 2008) DOI: 10.2353/jmoldx.2008.080028 Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Characterization of a novel large deletion of the CFTR gene involving exon 2 [c.54-1161_c.164+1603del2875] in a CF black SA patient. A: This 2875 bp-deletion occurred between the nucleotide 54-1161 of CFTR intron 1 (IVS1 nt 22,944) and the nucleotide 164 + 1603 of intron 2 (IVS2 nt 1603) according to the recommended international nomenclature with the A of the ATG start codon numbered as +1 (http://www.hgvs.org/mutnomen). It is also termed [186-1161_c.296+1603del2875] with the A of the ATG translation start codon numbered as +133 in accordance with the GenBank reference sequence for the CFTR gene on chromosome 7 (NM_000492.2) and the CF mutation database (http://www.genet.sickkids.on.ca/CFTR/app). B: The breakpoints junction (vertical bar) was determined by direct sequencing of a WGA-amplified junction fragment (primers F21-IVS1F and IVS2R) and confirmed by direct sequencing of patient DNA (primers CF23036F and IVS2R). C: Specifically-designed junction fragment test (duplex PCR using primers CF23036F and IVS2R and primers for control exon 10), giving a 960-bp specific product in the presence of deletion c.54-1161_c.164+1603del2875 on 2% agarose gel. Lane 1, control DNA heterozygote for the Caucasian deletion of exon 2 [c.54-5811_c.164 + 2186del8108ins182]; lane 2, normal control DNA; and, lane 3, patient DNA carrying deletion [c.54-1161_c.164+ 1603del2875] involving exon 2. The Journal of Molecular Diagnostics 2008 10, 544-548DOI: (10.2353/jmoldx.2008.080028) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions